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Biomedical subjects

P Divry

Publications and source records attributed to P Divry.

At least 109 records · Page 6Linked to original sources
PubMed1978

[Trickling mucography under high pressure and with moderate contrast. First phase of gastroduodenal examinations (author's transl)].

The authors describe a simple and reliable technique of successive mucography of the anterior and posterior surfaces of the stomach. The examination is begun in a seated position, in dorsal horizontal and trickling provides perfect conditions of study, selective and with no opaque superimposition, of the posterior surface of the stomach, the site of 90% of organic lesions. Study of the anterior surface is also simplified. Practically no patient cooperation is required and the technique may be used in the elderly and those with physical incapacity. The aim is to obtain a morphologically and physiologically pure picture of the mucosa and the gastric folds. Very small lesions may be visualised without resort to other techniques and the study of cases of gastritis is greatly simplified.

Barium Sulfate↗
PubMed1977

[Painful and transient spasm of the cardioesophageal sphincter (author's transl)].

The writers describe a painful and transient spasm of the lower esophageal sphincter. Clinically, it is a matter of total aphagia, which is painful and prolonged, and occurs during eating; it always responds to medical treatment (rehydratation and antispasmodics), and it does not exceed 48 hours. An X-ray examination is both essential and characteristic: it visualizes the spasm of the lower esophageal sphincter in its full extent, the food gap, the sideration of the thoracic esophagus, and the disappearance of the air pocket. A perfect understanding of these clinical and and radiological signs enables a recognition of the functional nature of this medically curable condition, and thus aids patients of all ages to avoid an unecessary surgical operation.

Aged↗
PubMed1977

[Hyperglycinemia without ketosis. Biochemical and enzymatic study].

We report a biochemical and enzymatic study of two neonatal cases of non ketotic hyperglycinemia. We report the comparative evolution of glycine level in plasma and CSF during a restrictive diet excluding glycine and serine. The high levels of glycine found in CSF and brain are likely to reflect the brain damage. After autopsy, the glycine synthase activity determination shows a significative partial deficiency in the liver and a total deficiency in the brain. Glycine synthase affinity for glycine is similar for controls and patients and this lead use to think that the deficiency is due to a diminished biosynthesis of the enzyme molecule.

Amino Acid Metabolism, Inborn Errors↗
PubMed1975

[Intravenous duodenography: a routine investigation (author's transl)].

The authors present their experience of intravenous duodenography using tiemonium methyl sulphate which they described in 1963. This simple, regular and safe techniques enables one to obtain at the end of the investigations, a duodenography by first intention, by means of the intravenous injection of tiemonium. Parietal lesions, extrinsic compression of small or large dimension, within the duodenal outline are easily demonstrated. Gastroduodenal investigation must of course be comprised of pictures during collapse, semi-collapse and repletion of the entire duodenal outline; once out of every two times, one has to recourse to intravenous duodenography which has become a routine investigation.

Duodenal Diseases↗
PubMed1975

[A form of late propionic acidemia].

Report of 3 cases of propionic acidemia which concern one boy (O.M.) in whom a formed diagnosis of hyperglycemia with ketosis had been established, and two sisters (C.V. and K.V.) of another family. The activities of propionyl-CoA carboxylase in O.M. and C.V. fibroblasts were reduced to 4.5 and 2.5% of control. After two severe metabolic crisis, at 6 and 44 months of age, O.M. has at the present time (11yrs) a normal psychical development, and very few neurological disorders. Propionic acidemia was manifested only at 34 months of age in C.V. with a very severe crisis of acidoketosis with hypoglycemia, leading to neurological sequellae which are still important at 56 months of age. The disease was entirely latent in K.V. at 26 months, when the diagnosis was proven; it remains latent at 40 months. These case reports represent a special form of propionic acidemia with late clinical expression. Biological evolution does not seem to be affected by prolonged administration of biotine.

Acidosis↗
PubMedDate not supplied

Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.

Mevalonic aciduria, due to mevalonate kinase deficiency, is the first recognized defect in the biosynthesis of cholesterol and isoprenoids. Very few patients with this disorder have been reported. Three siblings born from consanguineous parents are reported. Several clinical signs were present in all 3 children, including failure-to-thrive, susceptibility to infections, hepatosplenomegaly, cataract, and psychomotor retardation. Dysmorphic features were more apparent in the two older siblings. Urinary organic acid analysis by gas chromatography/mass spectrometry invariably revealed a high urinary excretion rate of mevalonic acid. Mevalonate kinase activity assayed in fibroblasts was very low. Diagnosis of this very rare disease may be suspected simply on clinical evidence; it is confirmed by abnormal excretion of mevalonic acid.

Brain Diseases, Metabolic↗
PubMedDate not supplied

Seventeen novel mutations that cause profound biotinidase deficiency.

We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene and encode amino acids that are conserved in mammals. Our results increase the total number of different mutations that cause biotinidase deficiency to 79. These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined.

Amidohydrolases↗
PubMedDate not supplied

[N-acetylaspartic aciduria. Clinical, biological and physiopathological study].

Two cases of N-acetylaspartic aciduria in siblings are described and compared to the 18 cases already reported. The disease should be considered in childhood when a syndrome of severe encephalopathy with macrocephaly, blindness caused by optic atrophy and diffuse leucodystrophy on CT scan occurs. Urinary organic acids gas chromatography confirms the diagnosis. It is probably inherited as an autosomal recessive trait. Aspartoacylase activity deficiency has been reported and this assay could possibly be used for prenatal diagnosis. Pathogenesis is not clearly understood but N-acetylaspartic acid (NAA) seems to be essential for central nervous system myelination. Clinical and anatomic features of N-acetylaspartic aciduria are very similar to Van Bogaert-Bertrand disease (cerebral spongy degeneration or Canavan disease) but heterogeneity of this disease cannot excluded.

Aspartic Acid↗